AGER[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2567861	NM_001136.5(AGER):c.1177G>A (p.Glu393Lys)	AGER (E379K +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2605044	NM_001136.5(AGER):c.1165A>C (p.Asn389His)	AGER (N375H +3 more)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2282320	NM_001136.5(AGER):c.1124C>T (p.Ala375Val)	AGER (A361V +4 more)	Single nucleotide variant (missense variant +4 more)	not specified	GLikely benign
Select item 769678	NM_001136.5(AGER):c.1106G>A (p.Arg369Gln)	AGER (R385Q +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 735622	NM_001136.5(AGER):c.1027C>T (p.Leu343=)	AGER (P291L)	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2582842	NM_001136.5(AGER):c.992-6G>A	AGER	Single nucleotide variant (intron variant)	COPD, severe early onset	GUncertain significance
Select item 742280	NM_001136.5(AGER):c.975G>A (p.Glu325=)	AGER (G274R +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2582839	NM_001136.5(AGER):c.964+208A>G	AGER	Single nucleotide variant (intron variant)	COPD, severe early onset	GLikely risk allele
Select item 785164	NM_001136.5(AGER):c.941G>A (p.Arg314His)	AGER (R314H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 782997	NM_001136.5(AGER):c.925G>A (p.Gly309Arg)	AGER (G325R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2494005	NM_001136.5(AGER):c.920G>T (p.Ser307Ile)	AGER (S323I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605889	NM_001136.5(AGER):c.914A>G (p.His305Arg)	AGER (I288V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 710266	NM_001136.5(AGER):c.902G>C (p.Cys301Ser)	AGER (V284L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2330677	NM_001136.5(AGER):c.878C>T (p.Pro293Leu)	AGER (P279L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095358	NM_001136.5(AGER):c.872T>C (p.Ile291Thr)	AGER (I277T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095357	NM_001136.5(AGER):c.866C>G (p.Pro289Arg)	AGER (P275R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549143	NM_001136.5(AGER):c.842C>T (p.Pro281Leu)	AGER (P267L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377323	NM_001136.5(AGER):c.826G>A (p.Val276Met)	AGER (V262M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2582840	NM_001136.5(AGER):c.822+49G>T	AGER	Single nucleotide variant (intron variant)	COPD, severe early onset	GUncertain significance
Select item 710267	NM_001136.5(AGER):c.811T>A (p.Trp271Arg)	AGER (W257R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2392022	NM_001136.5(AGER):c.782T>A (p.Val261Asp)	AGER (V247D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523346	NM_001136.5(AGER):c.763G>A (p.Val255Ile)	AGER (V241I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225941	NM_001136.5(AGER):c.754G>A (p.Gly252Ser)	AGER (G252S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388710	NM_001136.5(AGER):c.737G>A (p.Gly246Asp)	AGER (G246D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745864	NM_001136.5(AGER):c.692-9A>C	AGER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2314946	NM_001136.5(AGER):c.653G>A (p.Arg218Gln)	AGER (R218Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275768	NM_001136.5(AGER):c.604C>T (p.Pro202Ser)	AGER (P188S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275758	NM_001136.5(AGER):c.593G>A (p.Arg198Gln)	AGER (R198Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3275748	NM_001136.5(AGER):c.592C>T (p.Arg198Trp)	AGER (R198W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095333	NM_001136.5(AGER):c.538C>T (p.His180Tyr)	AGER (H180Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095329	NM_001136.5(AGER):c.475T>G (p.Leu159Val)	AGER (L159V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275790	NM_001136.5(AGER):c.377T>G (p.Ile126Ser)	AGER (I126S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095327	NM_001136.5(AGER):c.299A>T (p.Gln100Leu)	AGER (Q100L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582841	NM_001136.5(AGER):c.244G>A (p.Gly82Ser)	AGER (G68S +1 more)	Single nucleotide variant (missense variant +1 more)	COPD, severe early onset	GUncertain significance
Select item 729999	NM_001136.5(AGER):c.243C>T (p.Asn81=)	AGER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2274933	NM_001136.5(AGER):c.242A>G (p.Asn81Ser)	AGER (N67S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772876	NM_001136.5(AGER):c.229C>T (p.Arg77Cys)	AGER (R63C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3275799	NM_001136.5(AGER):c.220A>G (p.Ser74Gly)	AGER (S60G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471491	NM_001136.5(AGER):c.208G>A (p.Gly70Ser)	AGER (G56S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301361	NM_001136.5(AGER):c.188T>G (p.Val63Gly)	AGER (V63G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351356	NM_001136.5(AGER):c.169C>T (p.Arg57Trp)	AGER (R57W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275779	NM_001136.5(AGER):c.166G>A (p.Gly56Ser)	AGER (G56S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095313	NM_001136.5(AGER):c.161A>G (p.Asn54Ser)	AGER (N54S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 742948	NM_001136.5(AGER):c.138C>T (p.Pro46=)	AGER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2376869	NM_001136.5(AGER):c.114T>G (p.Cys38Trp)	AGER (C38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359551	NM_001136.5(AGER):c.88A>G (p.Ile30Val)	AGER (I30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603664	NM_001136.5(AGER):c.10G>A (p.Gly4Arg)	AGER (G4R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770924	NM_001136.5(AGER):c.6= (p.Ala2=)	AGER	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 814808	GRCh37/hg19 6p21.33-21.32(chr6:31916915-32278000)x3	AGER, AGPAT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 686165	GRCh37/hg19 6p21.33-21.32(chr6:32027371-32448599)x3	AGER, AGPAT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253700	GRCh37/hg19 6p21.33-21.32(chr6:32052479-32184403)x3	AGER, AGPAT1 +10 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 59